Biochemical and molecular findings in a patient with myoclonic epilepsy due to a mistarget of the β-glucosidase enzyme

Molecular Genetics and Metabolism

Volumn 97, Issue 4, 2009, Pages 309-311

  Dardis, Andrea ^a   Filocamo, Mirella ^b   Grossi, Serena ^b   Ciana, Giovanni ^c   Franceschetti, Silvana ^d   Dominissini, Silvia ^c   Rubboli, Guido ^e   Di Rocco, Maya ^b   Bembi, Bruno ^a  

^a SANTA MARIA DELLA MISERICORDIA UNIVERSITY HOSPITAL   (Italy)

^b Laboratory of Pre and Post natal Diagnosis of Metabolic Diseases   (Italy)

^c INSTITUTE FOR MATERNAL AND CHILD HEALTH IRCCS BURLO GAROFOLO   (Italy)

^d DEPARTMENT OF NEUROSURGERY   (Italy)

^e BELLARIA HOSPITAL   (Italy)

Author keywords

Glucosidase; LIMP 2 deficiency; Myoclonus

Indexed keywords

BETA GLUCOSIDASE; LYSOSOMAL INTEGRAL MEMBRANE PROTEIN 2; PROTEIN DERIVATIVE; UNCLASSIFIED DRUG;

ADULT; ANXIETY; ARTICLE; ATAXIA; CASE REPORT; CONSCIOUSNESS DISORDER; FEMALE; HOSPITAL ADMISSION; HUMAN; MUSCLE HYPOTONIA; MYOCLONUS; MYOCLONUS EPILEPSY; NEUROLOGIC DISEASE; PRIORITY JOURNAL; PROTEIN TARGETING; SEIZURE; TREMOR;

ADULT; BETA-GLUCOSIDASE; FEMALE; HUMANS; LYSOSOME-ASSOCIATED MEMBRANE GLYCOPROTEINS; MYOCLONIC EPILEPSIES, PROGRESSIVE; RECEPTORS, SCAVENGER;

EID: 67649668925     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2009.04.011     Document Type: Article

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